#00064421

A 77-year-old man presented with weakness and pancytopenia. His laboratory values showed a white blood cell count of 4 × 10⁹/L; neutrophils, 0.6 × 10⁹/L; hemoglobin, 101 g/L; and platelet count, 25 × 10⁹/L. Physical examination and computed tomography revealed no adenopathy or organomegaly. Peripheral blood smears showed 7% of medium-sized lymphoid cells with basophilic cytoplasm, round or irregular nuclei, finely clumped chromatin, and various-sized nucleoli (panels A-C; May-Grünwald-Giemsa stain; 100× objective, original magnification ×1000). Bone marrow was massively infiltrated. Flow cytometric analysis demonstrated a CD20⁺/CD10⁺/CD5^– population with K chain restriction (panel D). The karyotype was complex with t(8;14) translocation, 3q abnormality, and 11q duplication-inversion (panel E; 46∼47,Y,del(X)(p11p22),dup(1)(q12q43),der(3)t(3;?10)(q2?7;q22),+7,del(7)(q21q36),t(8;14)(q24;q32),-10,dup(11)(q23q12),add(12)(p11),-13,-21,+2mars[cp13].ish der(3)(BCL6-),t(8;14)(MYC+,IGH+;IGH+,MYC+),der(11)(11pter->11q23::11q23->11q13::11q25->11qter)(D11Z1+,FAHAH1B2++,ETS1-),der(12)(5’BCL6+),mar(3’BCL6+,IGH+)[10]). Fluorescence in situ hybridization confirmed the co-occurrence of IGH::MYC rearrangement (panel F, double fusion); BCL6 rearrangement (panel G, split); and 11q23 gain and 11q24 loss targeting FAHAH1B2 and ETS1 loci, respectively (panel H, 3 green signals, 1 red signal), without BCL2 rearrangement (panels F-H; 63× objective, original magnification ×630). The patient quickly died.

This leukemic case was diagnosed as high-grade B-cell lymphoma with MYC and BCL6 rearrangements (HGBL-MYC/BCL6). The 11q23 gain/11q24 loss pattern constitutes the cytogenetic hallmark of the “large B-cell lymphoma with 11q aberration” that diagnostically lacks MYC rearrangement. However, 11q aberration and MYC rearrangement may occasionally co-occur in HGBL. This is the first report of HGBL-MYC/BCL6 with 11q aberration.

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